High frequency of recessive WFS1 mutations among Indian children with islet antibody-negative type 1 diabetes.
Jayakrishnan C MenonPratibha SinghArchana ArchanaPreeti SinghMedha MittalUma KangaKausik MandalAnju SethVijayalakshmi BhatiaPreeti DabadghaoSiddhnath SudhanshuAtul GargRuchira VishwakarmaAditya Narayan SarangiShivendra VermaSurya Kumar SinghEesh BhatiaPublished in: The Journal of clinical endocrinology and metabolism (2023)
Nearly one-quarter of Indian children with islet antibody-negative T1DM had recessive mutations in the WFS1 gene. These patients did not exhibit other features of WS at the time of diagnosis. Testing for monogenic diabetes, especially WS, should be considered in Indian children with antibody-negative T1DM.
Keyphrases
- high frequency
- type diabetes
- young adults
- glycemic control
- end stage renal disease
- transcranial magnetic stimulation
- cardiovascular disease
- chronic kidney disease
- newly diagnosed
- ejection fraction
- intellectual disability
- gene expression
- peritoneal dialysis
- insulin resistance
- skeletal muscle
- autism spectrum disorder
- patient reported outcomes
- patient reported
- duchenne muscular dystrophy